(Q34436571)

2 August 2017

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title

Autosomal dominant polycystic kidney disease: modification of disease progression (English)

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autosomal dominant polycystic kidney disease

2 August 2017

main subject

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autosomal dominant polycystic kidney

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D J Peters

1

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2 August 2017

M H Breuning

series ordinal

2

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2 August 2017

language of work or name

English

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publication date

1 October 2001

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2 August 2017

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2 August 2017

volume

358

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2 August 2017

issue

9291

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2 August 2017

page(s)

1439-1444

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Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

2 August 2017

cites work

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7 January 2021

Autosomal dominant polycystic kidney disease--more than a renal disease

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7 January 2021

Genetic Heterogeneity of Polycystic Kidney Disease in Europe1

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7 January 2021

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

1 reference

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7 January 2021

A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes

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7 January 2021

Genetic heterogeneity of polycystic kidney disease in Bulgaria.

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7 January 2021

Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

1 reference

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7 January 2021

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

1 reference

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7 January 2021

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

1 reference

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7 January 2021

Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains

1 reference

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7 January 2021

Polycystin: in vitro synthesis, in vivo tissue expression, and subcellular localization identifies a large membrane-associated protein

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https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Cellular localization and tissue distribution of polycystin-1

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Polycystin-1, the PKD1 gene product, is in a complex containing E-cadherin and the catenins

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

PKD1 interacts with PKD2 through a probable coiled-coil domain

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Specific association of the gene product of PKD2 with the TRPC1 channel

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Coordinate expression of the autosomal dominant polycystic kidney disease proteins, polycystin-2 and polycystin-1, in normal and cystic tissue.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Analysis of a large family with the second type of autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Mutation detection in the repeated part of the PKD1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Genotype-phenotype correlations at the adenomatous polyposis coli (APC) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Location of mutations within the PKD2 gene influences clinical outcome.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Multilocus polycystic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Modeling stochastic gene expression: implications for haploinsufficiency

1 reference

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7 January 2021

Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft für Pädiatrische Nephrologie

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Endotoxin provocation of experimental renal cystic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Citrate therapy for polycystic kidney disease in rats

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Effects of potassium citrate/citric acid intake in a mouse model of polycystic kidney disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Long-term ammonium chloride or sodium bicarbonate treatment in two models of polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Creatine supplementation increases renal disease progression in Han:SPRD-cy rats

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

The ACE insertion/deletion polymorphism has no influence on progression of renal function loss in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Influence of the ACE gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Effect of ACE gene polymorphism on age at renal death in polycystic kidney disease in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Somatic mutations are frequent and increase with age in human kidney epithelial cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Human mitochondrial manganese superoxide dismutase polymorphic variant Ile58Thr reduces activity by destabilizing the tetrameric interface

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Interaction between RGS7 and polycystin

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Epidermal growth factor receptor activity mediates renal cyst formation in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

The cystic fibrosis transmembrane conductance regulator mediates transepithelial fluid secretion by human autosomal dominant polycystic kidney disease epithelium in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

The effect of various nitric oxide-donor agents on hydrogen peroxide-mediated toxicity: a direct correlation between nitric oxide formation and protection

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Gender-dependent effect of L-NAME on polycystic kidney disease in Han:SPRD rats

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Lack of association of ACE/angiotensinogen genotype with renal function in autosomal dominant polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Somatic inactivation of Pkd2 results in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

Modifier genes in humans: strategies for identification

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2801%2906531-X

7 January 2021

10.1016/S0140-6736(01)06531-X

Identifiers

DOI

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2 August 2017

1 reference